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Background: Guillain-Barre syndrome (GBS) is a common acquired polyneuropathy in children. Aim: To describe the clinical and serial electrophysiological features along with short-term outcomes of children with GBS in north India. Setting and Design: This was a prospective study conducted at a tertiary care pediatric hospital in north India. Materials and Methods: Consecutive children, aged 2 to 18 years, with GBS, presenting within 4-weeks of onset of weakness, diagnosed on clinical and/or electrophysiological grounds, were enrolled. The enrolled children underwent a detailed clinical-assessment followed by nerve conduction studies. Repeat nerve conduction studies were performed after 2-weeks of the first study to determine changes in the electrophysiological subtype. The patients were followed up for 3 months. Results: Thirty-six children were studied. The mean age at presentation was 5.1 years [standard deviation (SD): 2.1]. The mean medical research council (MRC)-sum-score at admission was 24.1 (SD: 10.4). Thirty-three children (91%) had loss of ambulation, 24 (66%) had cranial nerve involvement, and 6 (16.6%) required ventilation. At presentation, 20 had acute motor axonal neuropathy (AMAN), 13 had acute inflammatory demyelinating polyneuropathy (AIDP), 2 had in-excitable nerves, and 1 had normal findings. Four children, initially diagnosed as AIDP, had AMAN with reversible conduction failure on the repeat study. The final classification was AMAN in 25 (69.4%; 95% confidence interval (CI), 51.9-83.7%) and AIDP in 9 children (25%; 95% CI, 12.1-42.2%). Only one patient was nonambulatory at a 3-month follow-up (n = 32). The Erasmus GBS outcome score was 2 in 2 (5.6%), 3 in 5 (13.9%), 4 in 26 (72.2%), and 5 in 3 (8.3%) patients. Conclusions: The serial electrophysiological studies were helpful in establishing the final correct diagnosis.

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PURPOSE: To review our experience with the Etomidate speech test (EST) for lateralizing language in children undergoing epilepsy surgery evaluation METHODS: This retrospective study included children (<18 years) with drug refractory focal epilepsy undergoing EST for bilateral or poorly reliable language representation on functional MRI. Data for consecutive children who underwent EST between January 2013 to June 2017 were reviewed. RESULTS: Twenty-one children (mean age at EST, 13.1â¯±â¯4.4 years) were studied, with 19-right hemispheric and 20 left hemispheric injections. Six patients had neurological co-morbidities. Duration of ipsilateral EEG slowing was sufficient for speech testing in all children with a single bolus of Etomidate per carotid artery. Language was lateralized to one hemisphere in 17 (80.9%) and bilateral in two cases. EST was unsuccessful in two patients because of diffuse EEG slowing. Contralateral transient frontal EEG slowing was seen in 14 (73.7%) cases. EST was well tolerated in all the patients. CONCLUSIONS: The EST was found to be successful and safe in lateralizing language in most of our drug refractory pediatric epilepsy cohort.

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Importance: Eye cancer staging systems used for standardizing patient care and research need to be validated. Objective: To evaluate the accuracy of the eighth edition of the American Joint Committee on Cancer (AJCC) Cancer Staging Manual in estimating metastatis and mortality rates of conjunctival melanoma. Design, Setting, and Participants: This international, multicenter, registry-based case series pooled data from 10 ophthalmic oncology centers from 9 countries on 4 continents. A total of 288 patients diagnosed with conjunctival melanoma from January 1, 2001, to December 31, 2013, were studied. Data analysis was performed from July 7, 2018, to September 11, 2018. Interventions: Treatments included excision biopsy, cryotherapy, topical chemotherapy, radiation therapy, enucleation, and exenteration. Main Outcomes and Measures: Metastasis rates and 5-year and 10-year Kaplan-Meier mortality rates according to the clinical T categories and subcategories of the eighth edition of the AJCC Cancer Staging Manual. Results: A total of 288 eyes from 288 patients (mean [SD] age, 59.7 [16.8] years; 147 [51.0%] male) with conjunctival melanoma were studied. Clinical primary tumors (cT) were staged at presentation as cT1 in 218 patients (75.7%), cT2 in 34 (11.8%), cT3 in 15 (5.2%), and cTx in 21 (7.3%). There were no T4 tumors. Pathological T categories (pT) were pTis in 43 patients (14.9%), pT1 in 169 (58.7%), pT2 in 33 (11.5%), pT3 in 12 (4.2%), and pTx in 31 (10.8%). Metastasis at presentation was seen in 5 patients (1.7%). Metastasis during follow-up developed in 24 patients (8.5%) after a median time of 4.3 years (interquartile range, 2.9-6.0 years). Of the 288 patients, 29 died (melanoma-related mortality, 10.1%) at a median time of 5.3 years (interquartile range, 1.8-7.0 years). The cumulative rates of mortality among patients with cT1 tumors were 0% at 1 year, 2.5% (95% CI, 0.7%-7.7%) at 5 years, and 15.2% (95% CI, 8.1%-27.4%) at 10 years of follow-up; among patients with cT2 tumors, 0% at 1 year, 28.6% (95% CI, 12.9%-58.4%) at 5 years, and 43.6% (95% CI, 19.6%-77.9%) at 10 years of follow-up; and among patients with cT3 tumors, 21.1% (95% CI, 8.1%-52.7%) at 1 year of follow-up and 31.6% (95% CI, 13.5%-64.9%) at 5 years of follow-up. Patients with cT2 and cT3 tumors had a significantly higher cumulative mortality rate compared with those presenting with cT1 tumors (log-rank P < .001). Patients with ulcerated melanomas had significantly higher risk of mortality (hazard ratio, 7.58; 95% CI, 1.02-56.32; P = .04). Conclusions and Relevance: This multicenter, international, collaborative study yielded evidence that the conjunctival melanoma staging system in the eighth edition of the AJCC Cancer Staging Manual can be used to accurately estimate metastasis and mortality rates. These findings appear to support the use of AJCC staging as a tool for patient care and research.

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Occipital lobe epilepsies can present with complex or elementary visual hallucinations and oculomotor symptoms like contraversive tonic or clonic deviation of eyes and head. Brief occipital seizures can be difficult to diagnose. We report a child with occipital plus epilepsy who was investigated with stereo-EEG.

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BACKGROUND: The safety of hemispherectomy between staged cardiac procedures is unknown and not previously reported. METHOD: Retrospective review of a case with drug-resistant epilepsy due to stroke following bidirectional cavopulmonary connection (BDCPC). RESULTS: This report describes the first case of a successful pediatric peri-insular functional hemispherectomy in the setting of a BDCPC. A discussion of the complex preoperative planning from both a cardiac and neurological perspective is presented. Considerations regarding hemispherectomy and its effects on the cardiac physiology, and perioperative considerations are emphasized in clinical decision making. CONCLUSIONS: A multidisciplinary approach was critical in this child which led to a successful outcome.

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PURPOSE:: To report that metastatic choroidal melanoma (systemic and intraocular) can respond to systemic immunotherapy. METHODS:: In 2010, a 64-year-old woman with a choroidal melanoma was treated with palladium-103 plaque brachytherapy. Developing 2.5 years later, radiation maculopathy was suppressed with periodic intravitreal anti-vascular endothelial growth factor injections for five additional years. Development of a new, discrete choroidal melanoma in the same eye prompted radiographic imaging of the orbits, abdomen/pelvis, and chest. Multi-organ metastasis in the eye, the liver, and nodes was treated with systemic combination immunotherapy with ipilimumab (3 mg/kg) and nivolumab (1 mg/kg) intravenous every 3 weeks for four cycles followed by nivolumab (3 mg/kg) intravenous every 4 weeks as maintenance. Subsequent ophthalmic and systemic surveillance were performed. RESULTS:: All sites of metastases were found to regress on systemic immunotherapy. For example, ophthalmic ultrasound imaging revealed that the intraocular metastasis was reduced from 6.6 to 1.5 mm in thickness. Synchronously, serial radiographic imaging revealed progressive shrinkage and disappearance of hepatic and nodal metastasis (except for one gastrohepatic node). However, combination stereotactic body radiation therapy (30 Gy) with nivolumab maintenance was found to induce a significant reduction in this remaining node. Continued periodic intraocular anti-vascular endothelial growth factor therapy has suppressed her radiation maculopathy resulting in 20/25 vision, now 8 ½ years after initial plaque therapy. CONCLUSION:: This case shows that metastatic choroidal melanoma can present in the same eye as the primary tumor. It also shows that systemic immunotherapy can control both ocular and systemic metastases as well as prolong both life and sight.

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Congenital disorders of glycosylation (CDG) are multisystemic inherited metabolic disorders with marked phenotypic variability. The most frequent described type is PMM2-CDG (earlier known as CDG Type Ia) which presents either with pure neurologic features or with combined neurologic and systemic features. The classical presentation is characterized by varied combinations of developmental delay, hypotonia, ataxia, dysmorphism, inverted nipples, and abnormal fat distribution. Strokelike episodes and seizures are known acute complications that usually occur on a background of developmental delay, ataxia, or dysmorphism. We report here a developmentally normal young girl who presented with isolated strokelike episodes and was diagnosed to have CDG Type Ia. This condition should be kept in the differentials of unexplained strokelike episodes in children. The diagnosis has important therapeutic and prognostic implications.

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Purpose: The purpose of this study is to describe the clinical characteristics, multimodality imaging findings, and clinical course of iris varices. Methods: Retrospective, noncomparative, observational case series of 28 eyes of 26 patients with iris varices, diagnosed between 2007 and 2017, has been used. Results: The mean (±SD) age was 58.3 ± 12.5 years (median 57.5, range 37-81). Patients were 57.7% male and 27% hypertensive. Varices were bilateral in two patients. The mean and median visual acuities were both 20/20 (range 20/16-20/40). Intraocular pressures were 16 mmHg (10-23 mmHg). Secondary glaucoma did not occur. The inferotemporal iris quadrant was affected in 75%. A single varix was seen in 64% and 36% appeared multiple. Varix orientation was radial in 57% and circumferential in 21%. Combined radial and circumferential varix orientation was noted in 18%. One had independent radial and circumferential varices in separate quadrants. A single episcleral sentinel blood vessel directed to the varix was present in 36%. Ultrasound biomicroscopy (UBM) showed a slightly increased mean iris thickness of 0.8 mm and multiple echolucent iris stromal vascular channels. Iris angiography showed no leakage of dye. Managed by observation over a mean follow-up of 37.7 months (range, 3-129), 96.4% eyes were stable and one (3.6%) regressed. No corectopia, ectropion uveae, hyphema, or metachronous anterior segment benign or malignant tumors occurred. Conclusion: Iris varix is primarily located in the inferotemporal quadrant and not associated with dysmorphic pupillary findings, progression, secondary glaucoma, or malignancy. Iris varices were benign vasculopathies with no associated ocular or vision-related morbidity.

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OBJECTIVE: To determine the molecular etiology of disease in 4 individuals from 2 unrelated families who presented with proximal muscle weakness and features suggestive of mitochondrial disease. METHODS: Clinical information and neuroimaging were reviewed. Genome sequencing was performed on affected individuals and biological parents. RESULTS: All affected individuals presented with muscle weakness and difficulty walking. In one family, both children had neonatal respiratory distress while the other family had 2 children with episodic deteriorations. In each family, muscle biopsy demonstrated ragged red fibers. MRI was suggestive of a mitochondrial leukoencephalopathy, with extensive deep cerebral white matter T2 hyperintense signal and selective involvement of the middle blade of the corpus callosum. Through genome sequencing, homozygous GFPT1 missense variants were identified in the affected individuals of each family. The variants detected (p.Arg14Leu and p.Thr151Lys) are absent from population databases and predicted to be damaging by in silico prediction tools. Following the genetic diagnosis, nerve conduction studies were performed and demonstrated a decremental response to repetitive nerve stimulation, confirming the diagnosis of myasthenia. Treatment with pyridostigmine was started in one family with favorable response. CONCLUSIONS: GFPT1 encodes a widely expressed protein that controls the flux of glucose into the hexosamine-biosynthesis pathway that produces precursors for glycosylation of proteins. GFPT1 variants and defects in other enzymes of this pathway have previously been associated with congenital myasthenia. These findings identify leukoencephalopathy as a previously unrecognized phenotype in GFPT1-related disease and suggest that mitochondrial dysfunction could contribute to this disorder.

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Multiple genes/variants have been implicated in various epileptic conditions. However, there is little general guidance available on the circumstances in which genetic testing is indicated and test selection in order to guide optimal test appropriateness and benefit. This is an account of the development of guidelines for genetic testing in epilepsy, which have been developed in Ontario, Canada. The Genetic Testing Advisory Committee was established in Ontario to review the clinical utility and validity of genetic tests and the provision of genetic testing in Ontario. As part of their mandate, the committee also developed recommendations and guidelines for genetic testing in epilepsy. The recommendations include mandatory prerequisites for an epileptology/geneticist/clinical biochemical geneticist consultation, prerequisite diagnostic procedures, circumstances in which genetic testing is indicated and not indicated and guidance for selection of genetic tests, including their general limitations and considerations. These guidelines represent a step toward the development of evidence-based gene panels for epilepsy in Ontario, the repatriation of genetic testing for epilepsy into Ontario molecular genetic laboratories and public funding of genetic tests for epilepsy in Ontario.

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A 39-year-old female presented with a painless yellow-pink tumor on her right eye. High-frequency ultrasound imaging revealed an epibulbar lesion with homogenous low internal reflectivity and no evidence of intraocular invasion. The patient underwent excisional biopsy leading to a pathology diagnosis of myxoma. Additional surgical margins as well as adjuvant cryotherapy margins were followed by extensive conjunctival repair. Herein, we report on a conjunctival myxoma with unique ultrasonographic findings.

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OBJECTIVE: Polymicrogyria (PMG) is a common malformation of cortical development. Many patients with PMG will have medically refractory epilepsy but the role of epilepsy surgery is unclear. The objective of this study was to assess the efficacy of surgical resection/disconnection in achieving seizure control in pediatric patients with PMG. METHODS: A retrospective review of children undergoing epilepsy surgery for PMG between 2002 and 2017 at The Hospital for Sick Children in Toronto, Canada, was performed. RESULTS: A total of 12 children aged 6 months to 17.8 years (median 8.8 years) underwent resective surgery (7 children) or functional hemispherectomy (5 children). Gross total resection or complete disconnection of PMG was carried out in 7 of 12 children. Follow-up duration was between 1 and 9 years (median 2.1 years). Nine children remained seizure-free at last follow-up. Complete resection or disconnection of PMG led to seizure freedom in 6 of 7 patients (86%), whereas subtotal resection produced seizure freedom in 3 of 5 patients (60%). SIGNIFICANCE: We present one of the largest surgical series of pediatric PMG patients. Seizure outcomes were best with complete resection/disconnection of PMG. However, tailored resections based on electroclinical and neuroradiologic data can produce good outcomes and remain an appropriate strategy for patients with extensive PMG.

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